Endophthalmitis Caused by Mixed Infections in Silicone Oil-filled Eye:One Case Report / 中国医学科学院学报

The incidence of endophthalmitis after vitrectomy is extremely low,especially lower in silicone oil-filled eyes.Silicone oil exerts a toxic effect on the cell membranes of microorganisms and leads to the lack of nutrients.It is thus believed to inhibit the growth of bacteria and fungi.Endophthalmitis induced by mixed bacteria in silicone oil-filled eye has been rarely reported.We reviewed the clinical manifestations,diagnosis,and treatment of a patient with endophthalmitis caused by mixed infection of

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge.</p><p><b>METHODS</b>In this study, we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the pathogenicity of the detected mutation by protein structure, pedigree validation, and molecular dynamics (MD) simulation.</p><p><b>RESULTS</b>A novel 15 bp deletion on GJA8 (c.426_440delGCTGGAGGGGACCCT or p. 143_147delLEGTL) was detected in the family. The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50), was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes. MD simulation revealed that the introduction of the deletion destabilized the Cx50 gap junction channel, indicating the deletion as a dominant-negative mutation.</p><p><b>CONCLUSIONS</b>The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.</p>

Conjunctival langerhans cell histiocytosis: a case report / 中国医学科学杂志(英文版)

Langerhans cell histiocytosis (LCH) is a rare disease, mainly involving the bone, skin, lung, liver, spleen, and skin.1 The heterogenenous nature of LCH makes it difficult to diagnose. Not only do the involved organs vary from case to case, but also its natural history. Herein, we describe a rare case of conjuctival LCH in an Asian woman.

Modified dacryocystorhinostomy / 中国医学科学院学报

<p><b>OBJECTIVE</b>To introduce a novelty-modified dacryocystorhinostomy.</p><p><b>METHODS</b>With the innovated scalpels, 11 patients (13 eyes) suffering from chronic dacryocystitis were performed with the newly modified surgical procedures derived from traditional dacryocystorhinostomy. The efficacy, efficiency, and complications were observed.</p><p><b>RESULTS</b>Thirteen operations for 11 patients were performed successfully and efficiently. The wound was during operation neat and with a slight hemorrhage which could be stanched easily. No serious complications were observed intra-operatively. The average time of follow-up was 7.8 months (6-12 months). All the dacryocysto-rhinal canals remained unblocked.</p><p><b>CONCLUSIONS</b>The modified dacryocystorhinostomy with the help of innovated mucous scalpel has high success rate, high efficiency and low complications. It deserves wide application as the first choice for chronic dacryocystitis.</p>